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Partial Deficiency of Hepatic Glucose-6-Phosphatase in an Adult Patient

Partial Deficiency of Hepatic Glucose-6-Phosphatase in an Adult Patient Abstract The association of hyperuricemia with type 1 glycogen storage disease (GSD) has been well established in both pediatric and adult patients.1,2 Acute gouty arthritis, tophaceous gout, and urate nephropathy are complications of hepatic glucose-6-phosphatase deficiency that may occur in the occasional patient surviving to adolescence or adulthood.3-7 In most instances, the disease presents a striking clinical syndrome during childhood and is readily diagnosed by the pediatrician. A history of failure to thrive, symptomatic fasting hypoglycemia, convulsions, episodic acidosis, and recurrent epistaxis is usually obtained; physical examination discloses short stature with normal body proportions, massive hepatomegaly, abdominal protuberance, eruptive xanthomata, and obesity. Associated biochemical abnormalities include marked hypoglycemia, acidosis, and elevations of blood lactate, triblyceride, cholesterol, free fatty acid, and uric acid.8,9 This report describes the case of an adult patient in whom childhood manifestations of glucose-6-phosphatase deficiency were mild and unrecognized; when she was age 39, tophaceous References 1. Fine RN, Strauss J, Donnell GN: Hyperuricemia in glycogen storage disease type 1. Am J Dis Child 112:572-576, 1966.Crossref 2. Howell RR: The interrelationship of glycogen storage disease and gout. Arthritis Rheum 8:780-785, 1965.Crossref 3. Alepa FP, Howell RR, Klinenberg JR, et al: Relationships between glycogen storage disease and tophaceous gout. Am J Med 42:58-66, 1967.Crossref 4. Kolb FO, DeLalla OF, Gofman JW: The hyperlipemias in disorders of carbohydrate metabolism. Metabolism 4:310-317, 1955. 5. Jeune M, Charrat A, Bertrand J: Polycorie hepatique hyperuricemic et goutte. Arch Fr Pediatr 14:897-909, 1957. 6. Von Hoyningen-Huene CBJ: Gout and glycogen storage disease in preadolescent brothers. Arch Intern Med 118:471-477, 1966.Crossref 7. Holling HE: Gout and glycogen storage disease. Ann Intern Med 58:654-663, 1963.Crossref 8. Howell RR, Ashton DM, Wyngaarden JB: Glucose-6-phosphatase deficiency glycogen storage disease. Pediatrics 29:553-565, 1962. 9. Howell RR: The glycogen storage diseases , in Stanbury JB, Wyngaarden JB, Fredrickson DS (eds): The Metabolic Basis of Inherited Disease . New York, McGraw-Hill Book Co Inc, 1972, pp 149-174. 10. Cori GT: Glycogen structure and enzyme deficiencies in storage disease. Harvey Lect 48:145-155, 1954. 11. Field RA: The glycogenoses. Am J Clin Pathol 50:20-28, 1968. 12. Cori GT, Cori CF: Glucose-6-phosphatase of the liver in glycogen storage disease. J Biochem 199:661-667, 1952. 13. Hsia DYY: Type 1 glycogen storage disease , in Inborn Errors of Metabolism . Chicago, Year Book Medical Publishers Inc, 1966, pp 187-190. 14. Schwartz R, Ashmore J, Renold AE: Galactose tolerance in glycogen storage disease. Pediatrics 19:585-594, 1957. 15. Van Crivald S: Clinical course of glycogen storage disease. Chemisch Weekblad 57:445, 1961. 16. Sokal JE, Lowe CU, et al: Studies of glycogen metabolism in liver glycogen disease. J Clin Invest 40:364-374, 1961.Crossref 17. Williams HE, Field JB: Studies on leucocyte phosphorylase in glycogen storage disease. Metabolism 12:464-466, 1963. 18. Field JB, Epstein S, Egan J: Intestinal glucose-6-phosphatase activity in patients with Von Gierke's disease and their parents. J Clin Invest 44:1240-1247, 1965.Crossref http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Archives of Internal Medicine American Medical Association

Partial Deficiency of Hepatic Glucose-6-Phosphatase in an Adult Patient

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Publisher
American Medical Association
Copyright
Copyright © 1975 American Medical Association. All Rights Reserved.
ISSN
0003-9926
eISSN
1538-3679
DOI
10.1001/archinte.1975.00330080109017
Publisher site
See Article on Publisher Site

Abstract

Abstract The association of hyperuricemia with type 1 glycogen storage disease (GSD) has been well established in both pediatric and adult patients.1,2 Acute gouty arthritis, tophaceous gout, and urate nephropathy are complications of hepatic glucose-6-phosphatase deficiency that may occur in the occasional patient surviving to adolescence or adulthood.3-7 In most instances, the disease presents a striking clinical syndrome during childhood and is readily diagnosed by the pediatrician. A history of failure to thrive, symptomatic fasting hypoglycemia, convulsions, episodic acidosis, and recurrent epistaxis is usually obtained; physical examination discloses short stature with normal body proportions, massive hepatomegaly, abdominal protuberance, eruptive xanthomata, and obesity. Associated biochemical abnormalities include marked hypoglycemia, acidosis, and elevations of blood lactate, triblyceride, cholesterol, free fatty acid, and uric acid.8,9 This report describes the case of an adult patient in whom childhood manifestations of glucose-6-phosphatase deficiency were mild and unrecognized; when she was age 39, tophaceous References 1. Fine RN, Strauss J, Donnell GN: Hyperuricemia in glycogen storage disease type 1. Am J Dis Child 112:572-576, 1966.Crossref 2. Howell RR: The interrelationship of glycogen storage disease and gout. Arthritis Rheum 8:780-785, 1965.Crossref 3. Alepa FP, Howell RR, Klinenberg JR, et al: Relationships between glycogen storage disease and tophaceous gout. Am J Med 42:58-66, 1967.Crossref 4. Kolb FO, DeLalla OF, Gofman JW: The hyperlipemias in disorders of carbohydrate metabolism. Metabolism 4:310-317, 1955. 5. Jeune M, Charrat A, Bertrand J: Polycorie hepatique hyperuricemic et goutte. Arch Fr Pediatr 14:897-909, 1957. 6. Von Hoyningen-Huene CBJ: Gout and glycogen storage disease in preadolescent brothers. Arch Intern Med 118:471-477, 1966.Crossref 7. Holling HE: Gout and glycogen storage disease. Ann Intern Med 58:654-663, 1963.Crossref 8. Howell RR, Ashton DM, Wyngaarden JB: Glucose-6-phosphatase deficiency glycogen storage disease. Pediatrics 29:553-565, 1962. 9. Howell RR: The glycogen storage diseases , in Stanbury JB, Wyngaarden JB, Fredrickson DS (eds): The Metabolic Basis of Inherited Disease . New York, McGraw-Hill Book Co Inc, 1972, pp 149-174. 10. Cori GT: Glycogen structure and enzyme deficiencies in storage disease. Harvey Lect 48:145-155, 1954. 11. Field RA: The glycogenoses. Am J Clin Pathol 50:20-28, 1968. 12. Cori GT, Cori CF: Glucose-6-phosphatase of the liver in glycogen storage disease. J Biochem 199:661-667, 1952. 13. Hsia DYY: Type 1 glycogen storage disease , in Inborn Errors of Metabolism . Chicago, Year Book Medical Publishers Inc, 1966, pp 187-190. 14. Schwartz R, Ashmore J, Renold AE: Galactose tolerance in glycogen storage disease. Pediatrics 19:585-594, 1957. 15. Van Crivald S: Clinical course of glycogen storage disease. Chemisch Weekblad 57:445, 1961. 16. Sokal JE, Lowe CU, et al: Studies of glycogen metabolism in liver glycogen disease. J Clin Invest 40:364-374, 1961.Crossref 17. Williams HE, Field JB: Studies on leucocyte phosphorylase in glycogen storage disease. Metabolism 12:464-466, 1963. 18. Field JB, Epstein S, Egan J: Intestinal glucose-6-phosphatase activity in patients with Von Gierke's disease and their parents. J Clin Invest 44:1240-1247, 1965.Crossref

Journal

Archives of Internal MedicineAmerican Medical Association

Published: Aug 1, 1975

References